The effect of complement factor B gene variation on age-related macular degeneration in Iranian patients

Purpose: to determine the possible association of rs4151667 (l9h) complement factor b (cfb) gene with age-related macular degeneration (amd). the l9h is one of the functional variations of the cfb. cfb gene encodes the most important protein of the complement system. methods: two hundred sixty-six patients with amd and 194 unrelated age/sex-matched controls were genotyped for cfb gene (rs4151667) using the polymerase chain reactionerestriction fragment length polymorphism (pcr-rflp) method. all research subjects were selected from three regions of iran (tehran, tabriz, and gonabad). results: the results showed a significant difference between the frequency of non-tt genotype in total patients and controls [odds ratio (or) ¼ 0.424, p ¼ 0.038]. the analysis for each studied region showed that in patients originating from the gonabad population, the frequency of tt and non-tt genotypes between patients and the control group were significantly different (or ¼ 2.894, p ¼ 0.046 for tt genotype and or ¼ 0.346, p ¼ 0.026 for non-tt genotype). in patients originating from tabriz population, tt and non-tt genotypes and a allele revealed considerably different frequencies between the patient and control groups (or ¼ 3.043, p ¼ 0.017; or ¼ 0.329, p ¼ 0.013 and or ¼ 0.347, p ¼ 0.048, respectively). analysis of patients from tehran also showed that there was a significant difference in the frequency of tt genotype between patients and controls (or ¼ 2.168, p ¼ 0.04). conclusions: the results of the current study indicated a possible protective role for non tt genotype in l9h variation cfb gene against amd in a sample of the iranian population. the region segregation results showed that tt genotype might be a risk factor for susceptibility to amd.